Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127420024C>G | CA2675088412 | MEGF10 | c.1427-20C>G (n.1427-20C>G) c.1592-20C>G (n.1592-20C>G) c.287-20C>G (n.287-20C>G) | gnomAD v4 |
5 | g.127420025T>A | CA2838251108 | MEGF10 | c.1427-19T>A (n.1427-19T>A) c.1592-19T>A (n.1592-19T>A) c.287-19T>A (n.287-19T>A) | |
5 | g.127420025T>C | CA2675088413 | MEGF10 | c.1427-19T>C (n.1427-19T>C) c.1592-19T>C (n.1592-19T>C) c.287-19T>C (n.287-19T>C) | gnomAD v4 |
5 | g.127420027G>T | CA2675088414 | MEGF10 | c.1427-17G>T (n.1427-17G>T) c.1592-17G>T (n.1592-17G>T) c.287-17G>T (n.287-17G>T) | gnomAD v4 |
5 | g.127420028C>A | CA126949067 | MEGF10 | c.1427-16C>A (n.1427-16C>A) c.1592-16C>A (n.1592-16C>A) c.287-16C>A (n.287-16C>A) | dbSNP gnomAD v4 |
5 | g.127420028C= | CA1580842968 | MEGF10 | c.1427-16C= (n.1427-16C=) c.1592-16C= (n.1592-16C=) c.287-16C= (n.287-16C=) | |
5 | g.127420028C>T | CA3391578 | MEGF10 | c.1427-16C>T (n.1427-16C>T) c.1592-16C>T (n.1592-16C>T) c.287-16C>T (n.287-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420029G>A | CA3391579 | MEGF10 | c.1427-15G>A (n.1427-15G>A) c.1592-15G>A (n.1592-15G>A) c.287-15G>A (n.287-15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420029G>C | CA2578393991 | MEGF10 | c.1427-15G>C (n.1427-15G>C) c.1592-15G>C (n.1592-15G>C) c.287-15G>C (n.287-15G>C) | gnomAD v4 |
5 | g.127420029G= | CA1580842969 | MEGF10 | c.1427-15G= (n.1427-15G=) c.1592-15G= (n.1592-15G=) c.287-15G= (n.287-15G=) | |
5 | g.127420029G>T | CA562761146 | MEGF10 | c.1427-15G>T (n.1427-15G>T) c.1592-15G>T (n.1592-15G>T) c.287-15G>T (n.287-15G>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420030T>C | CA3391580 | MEGF10 | c.1427-14T>C (n.1427-14T>C) c.1592-14T>C (n.1592-14T>C) c.287-14T>C (n.287-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420030T= | CA1580842971 | MEGF10 | c.1427-14T= (n.1427-14T=) c.1592-14T= (n.1592-14T=) c.287-14T= (n.287-14T=) | |
5 | g.127420032C= | CA1580842973 | MEGF10 | c.1427-12C= (n.1427-12C=) c.1592-12C= (n.1592-12C=) c.287-12C= (n.287-12C=) | |
5 | g.127420032C>G | CA562761148 | MEGF10 | c.1427-12C>G (n.1427-12C>G) c.1592-12C>G (n.1592-12C>G) c.287-12C>G (n.287-12C>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420036T>C | CA803572304 | MEGF10 | c.1427-8T>C (n.1427-8T>C) c.1592-8T>C (n.1592-8T>C) c.287-8T>C (n.287-8T>C) | dbSNP |
5 | g.127420036T= | CA1580842974 | MEGF10 | c.1427-8T= (n.1427-8T=) c.1592-8T= (n.1592-8T=) c.287-8T= (n.287-8T=) | |
5 | g.127420037C= | CA1580842976 | MEGF10 | c.1427-7C= (n.1427-7C=) c.1592-7C= (n.1592-7C=) c.287-7C= (n.287-7C=) | |
5 | g.127420037C>T | CA126949101 | MEGF10 | c.1427-7C>T (n.1427-7C>T) c.1592-7C>T (n.1592-7C>T) c.287-7C>T (n.287-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420038G>A | CA3391581 | MEGF10 | c.1427-6G>A (n.1427-6G>A) c.1592-6G>A (n.1592-6G>A) c.287-6G>A (n.287-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420038G= | CA1580842977 | MEGF10 | c.1427-6G= (n.1427-6G=) c.1592-6G= (n.1592-6G=) c.287-6G= (n.287-6G=) | |
5 | g.127420038G>T | CA2675088415 | MEGF10 | c.1427-6G>T (n.1427-6G>T) c.1592-6G>T (n.1592-6G>T) c.287-6G>T (n.287-6G>T) | gnomAD v4 |
5 | g.127420039C= | CA1580842979 | MEGF10 | c.1427-5C= (n.1427-5C=) c.1592-5C= (n.1592-5C=) c.287-5C= (n.287-5C=) | |
5 | g.127420039C>T | CA1580842980 | MEGF10 | c.1427-5C>T (n.1427-5C>T) c.1592-5C>T (n.1592-5C>T) c.287-5C>T (n.287-5C>T) | dbSNP |
5 | g.127420040A= | CA1580842981 | MEGF10 | c.1427-4A= (n.1427-4A=) c.1592-4A= (n.1592-4A=) c.287-4A= (n.287-4A=) | |
5 | g.127420040A>G | CA562761151 | MEGF10 | c.1427-4A>G (n.1427-4A>G) c.1592-4A>G (n.1592-4A>G) c.287-4A>G (n.287-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420041C>A | CA2578393992 | MEGF10 | c.1427-3C>A (n.1427-3C>A) c.1592-3C>A (n.1592-3C>A) c.287-3C>A (n.287-3C>A) | |
5 | g.127420041C= | CA1580842983 | MEGF10 | c.1427-3C= (n.1427-3C=) c.1592-3C= (n.1592-3C=) c.287-3C= (n.287-3C=) | |
5 | g.127420041C>T | CA126949110 | MEGF10 | c.1427-3C>T (n.1427-3C>T) c.1592-3C>T (n.1592-3C>T) c.287-3C>T (n.287-3C>T) | dbSNP |
5 | g.127420042A>C | CA360729801 | MEGF10 | c.1427-2A>C (n.1427-2A>C) c.1592-2A>C (n.1592-2A>C) c.287-2A>C (n.287-2A>C) | |
5 | g.127420042A>G | CA360729802 | MEGF10 | c.1427-2A>G (n.1427-2A>G) c.1592-2A>G (n.1592-2A>G) c.287-2A>G (n.287-2A>G) | COSMIC |
5 | g.127420042A>T | CA360729803 | MEGF10 | c.1427-2A>T (n.1427-2A>T) c.1592-2A>T (n.1592-2A>T) c.287-2A>T (n.287-2A>T) | |
5 | g.127420043G>A | CA360729804 | MEGF10 | c.1427-1G>A (n.1427-1G>A) c.1592-1G>A (n.1592-1G>A) c.287-1G>A (n.287-1G>A) | |
5 | g.127420043G>C | CA360729806 | MEGF10 | c.1427-1G>C (n.1427-1G>C) c.1592-1G>C (n.1592-1G>C) c.287-1G>C (n.287-1G>C) | |
5 | g.127420043G>T | CA360729805 | MEGF10 | c.1427-1G>T (n.1427-1G>T) c.1592-1G>T (n.1592-1G>T) c.287-1G>T (n.287-1G>T) | |
5 | g.127420044G>A | CA360729807 | MEGF10 | c.1427G>A (p.Gly476Asp) c.1592G>A (p.Gly531Asp) c.287G>A (p.Gly96Asp) | dbSNP |
5 | g.127420044G>C | CA360729808 | MEGF10 | c.1427G>C (p.Gly476Ala) c.1592G>C (p.Gly531Ala) c.287G>C (p.Gly96Ala) | |
5 | g.127420044G= | CA1580842984 | MEGF10 | c.1427G= (p.Gly476=) c.1592G= (p.Gly531=) c.287G= (p.Gly96=) | |
5 | g.127420044G>T | CA360729809 | MEGF10 | c.1427G>T (p.Gly476Val) c.1592G>T (p.Gly531Val) c.287G>T (p.Gly96Val) | |
5 | g.127420045C>A | CA446285504 | MEGF10 | c.1428C>A (p.Gly476=) c.1593C>A (p.Gly531=) c.288C>A (p.Gly96=) | |
5 | g.127420045C>G | CA446285511 | MEGF10 | c.1428C>G (p.Gly476=) c.1593C>G (p.Gly531=) c.288C>G (p.Gly96=) | gnomAD v4 |
5 | g.127420045C>T | CA446285508 | MEGF10 | c.1428C>T (p.Gly476=) c.1593C>T (p.Gly531=) c.288C>T (p.Gly96=) | gnomAD v4 COSMIC |
5 | g.127420046T>A | CA360729810 | MEGF10 | c.1429T>A (p.Trp477Arg) c.1594T>A (p.Trp532Arg) c.289T>A (p.Trp97Arg) | |
5 | g.127420046T>C | CA360729811 | MEGF10 | c.1429T>C (p.Trp477Arg) c.1594T>C (p.Trp532Arg) c.289T>C (p.Trp97Arg) | |
5 | g.127420046T>G | CA360729812 | MEGF10 | c.1429T>G (p.Trp477Gly) c.1594T>G (p.Trp532Gly) c.289T>G (p.Trp97Gly) | |
5 | g.127420047G>A | CA360729813 | MEGF10 | c.1430G>A (p.Trp477Ter) c.1595G>A (p.Trp532Ter) c.290G>A (p.Trp97Ter) | COSMIC |
5 | g.127420047G>C | CA360729814 | MEGF10 | c.1430G>C (p.Trp477Ser) c.1595G>C (p.Trp532Ser) c.290G>C (p.Trp97Ser) | |
5 | g.127420047G>T | CA360729815 | MEGF10 | c.1430G>T (p.Trp477Leu) c.1595G>T (p.Trp532Leu) c.290G>T (p.Trp97Leu) | |
5 | g.127420048G>A | CA360729816 | MEGF10 | c.1431G>A (p.Trp477Ter) c.1596G>A (p.Trp532Ter) c.291G>A (p.Trp97Ter) | |
5 | g.127420048G>C | CA360729817 | MEGF10 | c.1431G>C (p.Trp477Cys) c.1596G>C (p.Trp532Cys) c.291G>C (p.Trp97Cys) | |
5 | g.127420048G>T | CA360729818 | MEGF10 | c.1431G>T (p.Trp477Cys) c.1596G>T (p.Trp532Cys) c.291G>T (p.Trp97Cys) | |
5 | g.127420049C>A | CA360729821 | MEGF10 | c.1432C>A (p.His478Asn) c.1597C>A (p.His533Asn) c.292C>A (p.His98Asn) | |
5 | g.127420049C>G | CA360729820 | MEGF10 | c.1432C>G (p.His478Asp) c.1597C>G (p.His533Asp) c.292C>G (p.His98Asp) | |
5 | g.127420049C>T | CA360729819 | MEGF10 | c.1432C>T (p.His478Tyr) c.1597C>T (p.His533Tyr) c.292C>T (p.His98Tyr) | |
5 | g.127420050A= | CA1580842986 | MEGF10 | c.1433A= (p.His478=) c.1598A= (p.His533=) c.293A= (p.His98=) | |
5 | g.127420050A>C | CA360729822 | MEGF10 | c.1433A>C (p.His478Pro) c.1598A>C (p.His533Pro) c.293A>C (p.His98Pro) | |
5 | g.127420050A>G | CA360729823 | MEGF10 | c.1433A>G (p.His478Arg) c.1598A>G (p.His533Arg) c.293A>G (p.His98Arg) | |
5 | g.127420050A>T | CA360729824 | MEGF10 | c.1433A>T (p.His478Leu) c.1598A>T (p.His533Leu) c.293A>T (p.His98Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.127420051C>A | CA360729825 | MEGF10 | c.1434C>A (p.His478Gln) c.1599C>A (p.His533Gln) c.294C>A (p.His98Gln) | dbSNP COSMIC |
5 | g.127420051C= | CA1580842989 | MEGF10 | c.1434C= (p.His478=) c.1599C= (p.His533=) c.294C= (p.His98=) | |
5 | g.127420051C>G | CA360729826 | MEGF10 | c.1434C>G (p.His478Gln) c.1599C>G (p.His533Gln) c.294C>G (p.His98Gln) | |
5 | g.127420051C>T | CA3391582 | MEGF10 | c.1434C>T (p.His478=) c.1599C>T (p.His533=) c.294C>T (p.His98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420052G>A | CA3391583 | MEGF10 | c.1435G>A (p.Gly479Arg) c.1600G>A (p.Gly534Arg) c.295G>A (p.Gly99Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420052G>C | CA360729827 | MEGF10 | c.1435G>C (p.Gly479Arg) c.1600G>C (p.Gly534Arg) c.295G>C (p.Gly99Arg) | gnomAD v4 |
5 | g.127420052G= | CA1580842993 | MEGF10 | c.1435G= (p.Gly479=) c.1600G= (p.Gly534=) c.295G= (p.Gly99=) | |
5 | g.127420052G>T | CA360729828 | MEGF10 | c.1435G>T (p.Gly479Trp) c.1600G>T (p.Gly534Trp) c.295G>T (p.Gly99Trp) | |
5 | g.127420055dup | CA2839496786 | MEGF10 | c.1438dup (p.Val480GlyfsTer17) c.1603dup (p.Val535GlyfsTer17) c.298dup (p.Val100GlyfsTer17) | |
5 | g.127420053G>A | CA360729829 | MEGF10 | c.1436G>A (p.Gly479Glu) c.1601G>A (p.Gly534Glu) c.296G>A (p.Gly99Glu) | COSMIC |
5 | g.127420053G>C | CA360729830 | MEGF10 | c.1436G>C (p.Gly479Ala) c.1601G>C (p.Gly534Ala) c.296G>C (p.Gly99Ala) | |
5 | g.127420053G= | CA1580842995 | MEGF10 | c.1436G= (p.Gly479=) c.1601G= (p.Gly534=) c.296G= (p.Gly99=) | |
5 | g.127420053G>T | CA360729831 | MEGF10 | c.1436G>T (p.Gly479Val) c.1601G>T (p.Gly534Val) c.296G>T (p.Gly99Val) | dbSNP |
5 | g.127420054G>A | CA446285529 | MEGF10 | c.1437G>A (p.Gly479=) c.1602G>A (p.Gly534=) c.297G>A (p.Gly99=) | |
5 | g.127420054G>C | CA446285533 | MEGF10 | c.1437G>C (p.Gly479=) c.1602G>C (p.Gly534=) c.297G>C (p.Gly99=) | dbSNP |
5 | g.127420054G= | CA1580842997 | MEGF10 | c.1437G= (p.Gly479=) c.1602G= (p.Gly534=) c.297G= (p.Gly99=) | |
5 | g.127420054G>T | CA3391584 | MEGF10 | c.1437G>T (p.Gly479=) c.1602G>T (p.Gly534=) c.297G>T (p.Gly99=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420055G>A | CA360729833 | MEGF10 | c.1438G>A (p.Val480Met) c.1603G>A (p.Val535Met) c.298G>A (p.Val100Met) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420055G>C | CA360729834 | MEGF10 | c.1438G>C (p.Val480Leu) c.1603G>C (p.Val535Leu) c.298G>C (p.Val100Leu) | |
5 | g.127420055G= | CA1580843000 | MEGF10 | c.1438G= (p.Val480=) c.1603G= (p.Val535=) c.298G= (p.Val100=) | |
5 | g.127420055G>T | CA360729832 | MEGF10 | c.1438G>T (p.Val480Leu) c.1603G>T (p.Val535Leu) c.298G>T (p.Val100Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420056T>A | CA360729835 | MEGF10 | c.1439T>A (p.Val480Glu) c.1604T>A (p.Val535Glu) c.299T>A (p.Val100Glu) | |
5 | g.127420056T>C | CA360729836 | MEGF10 | c.1439T>C (p.Val480Ala) c.1604T>C (p.Val535Ala) c.299T>C (p.Val100Ala) | |
5 | g.127420056T>G | CA360729837 | MEGF10 | c.1439T>G (p.Val480Gly) c.1604T>G (p.Val535Gly) c.299T>G (p.Val100Gly) | |
5 | g.127420057G>A | CA446285543 | MEGF10 | c.1440G>A (p.Val480=) c.1605G>A (p.Val535=) c.300G>A (p.Val100=) | |
5 | g.127420057G>C | CA446285546 | MEGF10 | c.1440G>C (p.Val480=) c.1605G>C (p.Val535=) c.300G>C (p.Val100=) | |
5 | g.127420057G>T | CA446285547 | MEGF10 | c.1440G>T (p.Val480=) c.1605G>T (p.Val535=) c.300G>T (p.Val100=) | |
5 | g.127420058G>A | CA360729838 | MEGF10 | c.1441G>A (p.Asp481Asn) c.1606G>A (p.Asp536Asn) c.301G>A (p.Asp101Asn) | gnomAD v4 |
5 | g.127420058G>C | CA360729839 | MEGF10 | c.1441G>C (p.Asp481His) c.1606G>C (p.Asp536His) c.301G>C (p.Asp101His) | |
5 | g.127420058G>T | CA360729840 | MEGF10 | c.1441G>T (p.Asp481Tyr) c.1606G>T (p.Asp536Tyr) c.301G>T (p.Asp101Tyr) | |
5 | g.127420059A>C | CA360729841 | MEGF10 | c.1442A>C (p.Asp481Ala) c.1607A>C (p.Asp536Ala) c.302A>C (p.Asp101Ala) | |
5 | g.127420059A>G | CA360729842 | MEGF10 | c.1442A>G (p.Asp481Gly) c.1607A>G (p.Asp536Gly) c.302A>G (p.Asp101Gly) | gnomAD v4 |
5 | g.127420059A>T | CA360729843 | MEGF10 | c.1442A>T (p.Asp481Val) c.1607A>T (p.Asp536Val) c.302A>T (p.Asp101Val) | gnomAD v4 |
5 | g.127420060C>A | CA360729844 | MEGF10 | c.1443C>A (p.Asp481Glu) c.1608C>A (p.Asp536Glu) c.303C>A (p.Asp101Glu) | |
5 | g.127420060C>G | CA360729845 | MEGF10 | c.1443C>G (p.Asp481Glu) c.1608C>G (p.Asp536Glu) c.303C>G (p.Asp101Glu) | |
5 | g.127420060C>T | CA446285552 | MEGF10 | c.1443C>T (p.Asp481=) c.1608C>T (p.Asp536=) c.303C>T (p.Asp101=) | |
5 | g.127420061T>A | CA360729848 | MEGF10 | c.1444T>A (p.Cys482Ser) c.1609T>A (p.Cys537Ser) c.304T>A (p.Cys102Ser) | |
5 | g.127420061T>C | CA360729847 | MEGF10 | c.1444T>C (p.Cys482Arg) c.1609T>C (p.Cys537Arg) c.304T>C (p.Cys102Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420061T>G | CA360729846 | MEGF10 | c.1444T>G (p.Cys482Gly) c.1609T>G (p.Cys537Gly) c.304T>G (p.Cys102Gly) | |
5 | g.127420061T= | CA1580843002 | MEGF10 | c.1444T= (p.Cys482=) c.1609T= (p.Cys537=) c.304T= (p.Cys102=) | |
5 | g.127420062G>A | CA360729849 | MEGF10 | c.1445G>A (p.Cys482Tyr) c.1610G>A (p.Cys537Tyr) c.305G>A (p.Cys102Tyr) | |
5 | g.127420062G>C | CA360729850 | MEGF10 | c.1445G>C (p.Cys482Ser) c.1610G>C (p.Cys537Ser) c.305G>C (p.Cys102Ser) | |
5 | g.127420062G= | CA1580843004 | MEGF10 | c.1445G= (p.Cys482=) c.1610G= (p.Cys537=) c.305G= (p.Cys102=) | |
5 | g.127420062G>T | CA360729851 | MEGF10 | c.1445G>T (p.Cys482Phe) c.1610G>T (p.Cys537Phe) c.305G>T (p.Cys102Phe) | dbSNP |
5 | g.127420063C>A | CA360729852 | MEGF10 | c.1446C>A (p.Cys482Ter) c.1611C>A (p.Cys537Ter) c.306C>A (p.Cys102Ter) | |
5 | g.127420063C>G | CA360729853 | MEGF10 | c.1446C>G (p.Cys482Trp) c.1611C>G (p.Cys537Trp) c.306C>G (p.Cys102Trp) | |
5 | g.127420063C>T | CA446285559 | MEGF10 | c.1446C>T (p.Cys482=) c.1611C>T (p.Cys537=) c.306C>T (p.Cys102=) | |
5 | g.127420064T>A | CA360729854 | MEGF10 | c.1447T>A (p.Ser483Thr) c.1612T>A (p.Ser538Thr) c.307T>A (p.Ser103Thr) | |
5 | g.127420064T>C | CA360729855 | MEGF10 | c.1447T>C (p.Ser483Pro) c.1612T>C (p.Ser538Pro) c.307T>C (p.Ser103Pro) | gnomAD v4 |
5 | g.127420064T>G | CA360729856 | MEGF10 | c.1447T>G (p.Ser483Ala) c.1612T>G (p.Ser538Ala) c.307T>G (p.Ser103Ala) | dbSNP |
5 | g.127420065C>A | CA360729857 | MEGF10 | c.1448C>A (p.Ser483Tyr) c.1613C>A (p.Ser538Tyr) c.308C>A (p.Ser103Tyr) | |
5 | g.127420065C>G | CA360729858 | MEGF10 | c.1448C>G (p.Ser483Cys) c.1613C>G (p.Ser538Cys) c.308C>G (p.Ser103Cys) | |
5 | g.127420065C>T | CA360729859 | MEGF10 | c.1448C>T (p.Ser483Phe) c.1613C>T (p.Ser538Phe) c.308C>T (p.Ser103Phe) | |
5 | g.127420066C>A | CA446285572 | MEGF10 | c.1449C>A (p.Ser483=) c.1614C>A (p.Ser538=) c.309C>A (p.Ser103=) | |
5 | g.127420066C= | CA1580843006 | MEGF10 | c.1449C= (p.Ser483=) c.1614C= (p.Ser538=) c.309C= (p.Ser103=) | |
5 | g.127420066C>G | CA446285567 | MEGF10 | c.1449C>G (p.Ser483=) c.1614C>G (p.Ser538=) c.309C>G (p.Ser103=) | |
5 | g.127420066C>T | CA3391585 | MEGF10 | c.1449C>T (p.Ser483=) c.1614C>T (p.Ser538=) c.309C>T (p.Ser103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420067A>C | CA360729861 | MEGF10 | c.1450A>C (p.Ile484Leu) c.1615A>C (p.Ile539Leu) c.310A>C (p.Ile104Leu) | |
5 | g.127420067A>G | CA360729862 | MEGF10 | c.1450A>G (p.Ile484Val) c.1615A>G (p.Ile539Val) c.310A>G (p.Ile104Val) | |
5 | g.127420067A>T | CA360729860 | MEGF10 | c.1450A>T (p.Ile484Phe) c.1615A>T (p.Ile539Phe) c.310A>T (p.Ile104Phe) | |
5 | g.127420067dup | CA2842407029 | MEGF10 | c.1450dup (p.Ile484AsnfsTer13) c.1615dup (p.Ile539AsnfsTer13) c.310dup (p.Ile104AsnfsTer13) | |
5 | g.127420068T>A | CA3391586 | MEGF10 | c.1451T>A (p.Ile484Asn) c.1616T>A (p.Ile539Asn) c.311T>A (p.Ile104Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420068T>C | CA360729863 | MEGF10 | c.1451T>C (p.Ile484Thr) c.1616T>C (p.Ile539Thr) c.311T>C (p.Ile104Thr) | gnomAD v4 |
5 | g.127420068T>G | CA360729864 | MEGF10 | c.1451T>G (p.Ile484Ser) c.1616T>G (p.Ile539Ser) c.311T>G (p.Ile104Ser) | |
5 | g.127420068T= | CA1580843008 | MEGF10 | c.1451T= (p.Ile484=) c.1616T= (p.Ile539=) c.311T= (p.Ile104=) | |
5 | g.127420069C>A | CA446285584 | MEGF10 | c.1452C>A (p.Ile484=) c.1617C>A (p.Ile539=) c.312C>A (p.Ile104=) | |
5 | g.127420069C= | CA1580843010 | MEGF10 | c.1452C= (p.Ile484=) c.1617C= (p.Ile539=) c.312C= (p.Ile104=) | |
5 | g.127420069C>G | CA360729865 | MEGF10 | c.1452C>G (p.Ile484Met) c.1617C>G (p.Ile539Met) c.312C>G (p.Ile104Met) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420069C>T | CA446285581 | MEGF10 | c.1452C>T (p.Ile484=) c.1617C>T (p.Ile539=) c.312C>T (p.Ile104=) | |
5 | g.127420070A>C | CA446285586 | MEGF10 | c.1453A>C (p.Arg485=) c.1618A>C (p.Arg540=) c.313A>C (p.Arg105=) | |
5 | g.127420070A>G | CA360729866 | MEGF10 | c.1453A>G (p.Arg485Gly) c.1618A>G (p.Arg540Gly) c.313A>G (p.Arg105Gly) | |
5 | g.127420070A>T | CA360729867 | MEGF10 | c.1453A>T (p.Arg485Ter) c.1618A>T (p.Arg540Ter) c.313A>T (p.Arg105Ter) | |
5 | g.127420071G>A | CA126949141 | MEGF10 | c.1454G>A (p.Arg485Lys) c.1619G>A (p.Arg540Lys) c.314G>A (p.Arg105Lys) | dbSNP gnomAD v4 |
5 | g.127420071G>C | CA360729868 | MEGF10 | c.1454G>C (p.Arg485Thr) c.1619G>C (p.Arg540Thr) c.314G>C (p.Arg105Thr) | |
5 | g.127420071G= | CA1580843012 | MEGF10 | c.1454G= (p.Arg485=) c.1619G= (p.Arg540=) c.314G= (p.Arg105=) | |
5 | g.127420071G>T | CA360729869 | MEGF10 | c.1454G>T (p.Arg485Ile) c.1619G>T (p.Arg540Ile) c.314G>T (p.Arg105Ile) | |
5 | g.127420072A>C | CA360729870 | MEGF10 | c.1455A>C (p.Arg485Ser) c.1620A>C (p.Arg540Ser) c.315A>C (p.Arg105Ser) | |
5 | g.127420072A>G | CA446285602 | MEGF10 | c.1455A>G (p.Arg485=) c.1620A>G (p.Arg540=) c.315A>G (p.Arg105=) | |
5 | g.127420072A>T | CA360729871 | MEGF10 | c.1455A>T (p.Arg485Ser) c.1620A>T (p.Arg540Ser) c.315A>T (p.Arg105Ser) | |
5 | g.127420073T>A | CA360729872 | MEGF10 | c.1456T>A (p.Cys486Ser) c.1621T>A (p.Cys541Ser) c.316T>A (p.Cys106Ser) | |
5 | g.127420073T>C | CA360729873 | MEGF10 | c.1456T>C (p.Cys486Arg) c.1621T>C (p.Cys541Arg) c.316T>C (p.Cys106Arg) | |
5 | g.127420073T>G | CA360729874 | MEGF10 | c.1456T>G (p.Cys486Gly) c.1621T>G (p.Cys541Gly) c.316T>G (p.Cys106Gly) | dbSNP gnomAD v2 |
5 | g.127420073T= | CA1580843014 | MEGF10 | c.1456T= (p.Cys486=) c.1621T= (p.Cys541=) c.316T= (p.Cys106=) | |
5 | g.127420074G>A | CA360729875 | MEGF10 | c.1457G>A (p.Cys486Tyr) c.1622G>A (p.Cys541Tyr) c.317G>A (p.Cys106Tyr) | dbSNP |
5 | g.127420074G>C | CA360729876 | MEGF10 | c.1457G>C (p.Cys486Ser) c.1622G>C (p.Cys541Ser) c.317G>C (p.Cys106Ser) | |
5 | g.127420074G= | CA1580843015 | MEGF10 | c.1457G= (p.Cys486=) c.1622G= (p.Cys541=) c.317G= (p.Cys106=) | |
5 | g.127420074G>T | CA360729877 | MEGF10 | c.1457G>T (p.Cys486Phe) c.1622G>T (p.Cys541Phe) c.317G>T (p.Cys106Phe) | |
5 | g.127420075T>A | CA360729878 | MEGF10 | c.1458T>A (p.Cys486Ter) c.1623T>A (p.Cys541Ter) c.318T>A (p.Cys106Ter) | |
5 | g.127420075T>C | CA446285617 | MEGF10 | c.1458T>C (p.Cys486=) c.1623T>C (p.Cys541=) c.318T>C (p.Cys106=) | |
5 | g.127420075T>G | CA360729879 | MEGF10 | c.1458T>G (p.Cys486Trp) c.1623T>G (p.Cys541Trp) c.318T>G (p.Cys106Trp) | |
5 | g.127420076C>A | CA360729880 | MEGF10 | c.1459C>A (p.Pro487Thr) c.1624C>A (p.Pro542Thr) c.319C>A (p.Pro107Thr) | gnomAD v4 |
5 | g.127420076C>G | CA360729881 | MEGF10 | c.1459C>G (p.Pro487Ala) c.1624C>G (p.Pro542Ala) c.319C>G (p.Pro107Ala) | |
5 | g.127420076C>T | CA360729882 | MEGF10 | c.1459C>T (p.Pro487Ser) c.1624C>T (p.Pro542Ser) c.319C>T (p.Pro107Ser) | gnomAD v4 |
5 | g.127420077_127420078del | CA2842407030 | MEGF10 | c.1460_1461del (p.Pro487GlnfsTer9) c.1625_1626del (p.Pro542GlnfsTer9) c.320_321del (p.Pro107GlnfsTer9) | |
5 | g.127420077C>A | CA360729883 | MEGF10 | c.1460C>A (p.Pro487His) c.1625C>A (p.Pro542His) c.320C>A (p.Pro107His) | |
5 | g.127420077C= | CA1580843017 | MEGF10 | c.1460C= (p.Pro487=) c.1625C= (p.Pro542=) c.320C= (p.Pro107=) | |
5 | g.127420077C>G | CA360729884 | MEGF10 | c.1460C>G (p.Pro487Arg) c.1625C>G (p.Pro542Arg) c.320C>G (p.Pro107Arg) | ClinVar dbSNP |
5 | g.127420077C>T | CA3391587 | MEGF10 | c.1460C>T (p.Pro487Leu) c.1625C>T (p.Pro542Leu) c.320C>T (p.Pro107Leu) | dbSNP ExAC gnomAD v2 |
5 | g.127420078C>A | CA446285622 | MEGF10 | c.1461C>A (p.Pro487=) c.1626C>A (p.Pro542=) c.321C>A (p.Pro107=) | |
5 | g.127420078C>G | CA446285624 | MEGF10 | c.1461C>G (p.Pro487=) c.1626C>G (p.Pro542=) c.321C>G (p.Pro107=) | |
5 | g.127420078C>T | CA446285626 | MEGF10 | c.1461C>T (p.Pro487=) c.1626C>T (p.Pro542=) c.321C>T (p.Pro107=) | |
5 | g.127420079A>C | CA360729885 | MEGF10 | c.1462A>C (p.Ser488Arg) c.1627A>C (p.Ser543Arg) c.322A>C (p.Ser108Arg) | |
5 | g.127420079A>G | CA360729886 | MEGF10 | c.1462A>G (p.Ser488Gly) c.1627A>G (p.Ser543Gly) c.322A>G (p.Ser108Gly) | |
5 | g.127420079A>T | CA360729887 | MEGF10 | c.1462A>T (p.Ser488Cys) c.1627A>T (p.Ser543Cys) c.322A>T (p.Ser108Cys) | |
5 | g.127420080G>A | CA360729888 | MEGF10 | c.1463G>A (p.Ser488Asn) c.1628G>A (p.Ser543Asn) c.323G>A (p.Ser108Asn) | |
5 | g.127420080G>C | CA360729889 | MEGF10 | c.1463G>C (p.Ser488Thr) c.1628G>C (p.Ser543Thr) c.323G>C (p.Ser108Thr) | |
5 | g.127420080G>T | CA360729890 | MEGF10 | c.1463G>T (p.Ser488Ile) c.1628G>T (p.Ser543Ile) c.323G>T (p.Ser108Ile) | |
5 | g.127420081T>A | CA360729891 | MEGF10 | c.1464T>A (p.Ser488Arg) c.1629T>A (p.Ser543Arg) c.324T>A (p.Ser108Arg) | |
5 | g.127420081T>C | CA446285636 | MEGF10 | c.1464T>C (p.Ser488=) c.1629T>C (p.Ser543=) c.324T>C (p.Ser108=) | |
5 | g.127420081T>G | CA360729892 | MEGF10 | c.1464T>G (p.Ser488Arg) c.1629T>G (p.Ser543Arg) c.324T>G (p.Ser108Arg) | |
5 | g.127420082G>A | CA360729893 | MEGF10 | c.1465G>A (p.Gly489Ser) c.1630G>A (p.Gly544Ser) c.325G>A (p.Gly109Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420082G>C | CA360729894 | MEGF10 | c.1465G>C (p.Gly489Arg) c.1630G>C (p.Gly544Arg) c.325G>C (p.Gly109Arg) | |
5 | g.127420082G= | CA1580843019 | MEGF10 | c.1465G= (p.Gly489=) c.1630G= (p.Gly544=) c.325G= (p.Gly109=) | |
5 | g.127420082G>T | CA360729895 | MEGF10 | c.1465G>T (p.Gly489Cys) c.1630G>T (p.Gly544Cys) c.325G>T (p.Gly109Cys) | |
5 | g.127420083G>A | CA3391588 | MEGF10 | c.1466G>A (p.Gly489Asp) c.1631G>A (p.Gly544Asp) c.326G>A (p.Gly109Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420083G>C | CA360729896 | MEGF10 | c.1466G>C (p.Gly489Ala) c.1631G>C (p.Gly544Ala) c.326G>C (p.Gly109Ala) | |
5 | g.127420083G= | CA1580843021 | MEGF10 | c.1466G= (p.Gly489=) c.1631G= (p.Gly544=) c.326G= (p.Gly109=) | |
5 | g.127420083G>T | CA360729897 | MEGF10 | c.1466G>T (p.Gly489Val) c.1631G>T (p.Gly544Val) c.326G>T (p.Gly109Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420084C>A | CA446285643 | MEGF10 | c.1467C>A (p.Gly489=) c.1632C>A (p.Gly544=) c.327C>A (p.Gly109=) | |
5 | g.127420084C= | CA1580843024 | MEGF10 | c.1467C= (p.Gly489=) c.1632C= (p.Gly544=) c.327C= (p.Gly109=) | |
5 | g.127420084C>G | CA446285646 | MEGF10 | c.1467C>G (p.Gly489=) c.1632C>G (p.Gly544=) c.327C>G (p.Gly109=) | |
5 | g.127420084C>T | CA446285647 | MEGF10 | c.1467C>T (p.Gly489=) c.1632C>T (p.Gly544=) c.327C>T (p.Gly109=) | ClinVar dbSNP |
5 | g.127420085A= | CA1580843026 | MEGF10 | c.1468A= (p.Thr490=) c.1633A= (p.Thr545=) c.328A= (p.Thr110=) | |
5 | g.127420085A>C | CA360729898 | MEGF10 | c.1468A>C (p.Thr490Pro) c.1633A>C (p.Thr545Pro) c.328A>C (p.Thr110Pro) | |
5 | g.127420085A>G | CA360729899 | MEGF10 | c.1468A>G (p.Thr490Ala) c.1633A>G (p.Thr545Ala) c.328A>G (p.Thr110Ala) | dbSNP gnomAD v4 |
5 | g.127420085A>T | CA360729900 | MEGF10 | c.1468A>T (p.Thr490Ser) c.1633A>T (p.Thr545Ser) c.328A>T (p.Thr110Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420086C>A | CA360729901 | MEGF10 | c.1469C>A (p.Thr490Lys) c.1634C>A (p.Thr545Lys) c.329C>A (p.Thr110Lys) | |
5 | g.127420086C= | CA1580843027 | MEGF10 | c.1469C= (p.Thr490=) c.1634C= (p.Thr545=) c.329C= (p.Thr110=) | |
5 | g.127420086C>G | CA360729902 | MEGF10 | c.1469C>G (p.Thr490Arg) c.1634C>G (p.Thr545Arg) c.329C>G (p.Thr110Arg) | |
5 | g.127420086C>T | CA126949169 | MEGF10 | c.1469C>T (p.Thr490Ile) c.1634C>T (p.Thr545Ile) c.329C>T (p.Thr110Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420087A= | CA1580843029 | MEGF10 | c.1470A= (p.Thr490=) c.1635A= (p.Thr545=) c.330A= (p.Thr110=) | |
5 | g.127420087A>C | CA446285652 | MEGF10 | c.1470A>C (p.Thr490=) c.1635A>C (p.Thr545=) c.330A>C (p.Thr110=) | |
5 | g.127420087A>G | CA446285654 | MEGF10 | c.1470A>G (p.Thr490=) c.1635A>G (p.Thr545=) c.330A>G (p.Thr110=) | gnomAD v4 COSMIC |
5 | g.127420087A>T | CA446285655 | MEGF10 | c.1470A>T (p.Thr490=) c.1635A>T (p.Thr545=) c.330A>T (p.Thr110=) | dbSNP |
5 | g.127420088T>A | CA360729905 | MEGF10 | c.1471T>A (p.Trp491Arg) c.1636T>A (p.Trp546Arg) c.331T>A (p.Trp111Arg) | |
5 | g.127420088T>C | CA360729904 | MEGF10 | c.1471T>C (p.Trp491Arg) c.1636T>C (p.Trp546Arg) c.331T>C (p.Trp111Arg) | |
5 | g.127420088T>G | CA360729903 | MEGF10 | c.1471T>G (p.Trp491Gly) c.1636T>G (p.Trp546Gly) c.331T>G (p.Trp111Gly) | |
5 | g.127420089G>A | CA360729906 | MEGF10 | c.1472G>A (p.Trp491Ter) c.1637G>A (p.Trp546Ter) c.332G>A (p.Trp111Ter) | dbSNP |
5 | g.127420089G>C | CA360729907 | MEGF10 | c.1472G>C (p.Trp491Ser) c.1637G>C (p.Trp546Ser) c.332G>C (p.Trp111Ser) | |
5 | g.127420089G= | CA1580843030 | MEGF10 | c.1472G= (p.Trp491=) c.1637G= (p.Trp546=) c.332G= (p.Trp111=) | |
5 | g.127420089G>T | CA360729908 | MEGF10 | c.1472G>T (p.Trp491Leu) c.1637G>T (p.Trp546Leu) c.332G>T (p.Trp111Leu) | |
5 | g.127420090G>A | CA360729909 | MEGF10 | c.1473G>A (p.Trp491Ter) c.1638G>A (p.Trp546Ter) c.333G>A (p.Trp111Ter) | |
5 | g.127420090G>C | CA360729910 | MEGF10 | c.1473G>C (p.Trp491Cys) c.1638G>C (p.Trp546Cys) c.333G>C (p.Trp111Cys) | |
5 | g.127420090G>T | CA360729911 | MEGF10 | c.1473G>T (p.Trp491Cys) c.1638G>T (p.Trp546Cys) c.333G>T (p.Trp111Cys) | |
5 | g.127420091G>A | CA360729912 | MEGF10 | c.1474G>A (p.Gly492Ser) c.1639G>A (p.Gly547Ser) c.334G>A (p.Gly112Ser) | |
5 | g.127420091G>C | CA360729913 | MEGF10 | c.1474G>C (p.Gly492Arg) c.1639G>C (p.Gly547Arg) c.334G>C (p.Gly112Arg) | |
5 | g.127420091G>T | CA360729914 | MEGF10 | c.1474G>T (p.Gly492Cys) c.1639G>T (p.Gly547Cys) c.334G>T (p.Gly112Cys) | |
5 | g.127420092G>A | CA3391589 | MEGF10 | c.1475G>A (p.Gly492Asp) c.1640G>A (p.Gly547Asp) c.335G>A (p.Gly112Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420092G>C | CA360729915 | MEGF10 | c.1475G>C (p.Gly492Ala) c.1640G>C (p.Gly547Ala) c.335G>C (p.Gly112Ala) | |
5 | g.127420092G= | CA1580843032 | MEGF10 | c.1475G= (p.Gly492=) c.1640G= (p.Gly547=) c.335G= (p.Gly112=) | |
5 | g.127420092G>T | CA360729916 | MEGF10 | c.1475G>T (p.Gly492Val) c.1640G>T (p.Gly547Val) c.335G>T (p.Gly112Val) | |
5 | g.127420093C>A | CA446285673 | MEGF10 | c.1476C>A (p.Gly492=) c.1641C>A (p.Gly547=) c.336C>A (p.Gly112=) | |
5 | g.127420093C>G | CA446285671 | MEGF10 | c.1476C>G (p.Gly492=) c.1641C>G (p.Gly547=) c.336C>G (p.Gly112=) | |
5 | g.127420093C>T | CA446285669 | MEGF10 | c.1476C>T (p.Gly492=) c.1641C>T (p.Gly547=) c.336C>T (p.Gly112=) | ClinVar gnomAD v4 |
5 | g.127420094T>A | CA360729919 | MEGF10 | c.1477T>A (p.Phe493Ile) c.1642T>A (p.Phe548Ile) c.337T>A (p.Phe113Ile) | |
5 | g.127420094T>C | CA360729918 | MEGF10 | c.1477T>C (p.Phe493Leu) c.1642T>C (p.Phe548Leu) c.337T>C (p.Phe113Leu) | |
5 | g.127420094T>G | CA360729917 | MEGF10 | c.1477T>G (p.Phe493Val) c.1642T>G (p.Phe548Val) c.337T>G (p.Phe113Val) | |
5 | g.127420095T>A | CA360729920 | MEGF10 | c.1478T>A (p.Phe493Tyr) c.1643T>A (p.Phe548Tyr) c.338T>A (p.Phe113Tyr) | |
5 | g.127420095T>C | CA360729922 | MEGF10 | c.1478T>C (p.Phe493Ser) c.1643T>C (p.Phe548Ser) c.338T>C (p.Phe113Ser) | gnomAD v4 |
5 | g.127420095T>G | CA360729921 | MEGF10 | c.1478T>G (p.Phe493Cys) c.1643T>G (p.Phe548Cys) c.338T>G (p.Phe113Cys) | |
5 | g.127420096T>A | CA360729923 | MEGF10 | c.1479T>A (p.Phe493Leu) c.1644T>A (p.Phe548Leu) c.339T>A (p.Phe113Leu) | |
5 | g.127420096T>C | CA446285681 | MEGF10 | c.1479T>C (p.Phe493=) c.1644T>C (p.Phe548=) c.339T>C (p.Phe113=) | |
5 | g.127420096T>G | CA360729924 | MEGF10 | c.1479T>G (p.Phe493Leu) c.1644T>G (p.Phe548Leu) c.339T>G (p.Phe113Leu) | |
5 | g.127420097G>A | CA360729925 | MEGF10 | c.1480G>A (p.Gly494Ser) c.1645G>A (p.Gly549Ser) c.340G>A (p.Gly114Ser) | |
5 | g.127420097G>C | CA360729926 | MEGF10 | c.1480G>C (p.Gly494Arg) c.1645G>C (p.Gly549Arg) c.340G>C (p.Gly114Arg) | |
5 | g.127420097G>T | CA360729927 | MEGF10 | c.1480G>T (p.Gly494Cys) c.1645G>T (p.Gly549Cys) c.340G>T (p.Gly114Cys) | |
5 | g.127420098G>A | CA3391590 | MEGF10 | c.1481G>A (p.Gly494Asp) c.1646G>A (p.Gly549Asp) c.341G>A (p.Gly114Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.127420098G>C | CA360729928 | MEGF10 | c.1481G>C (p.Gly494Ala) c.1646G>C (p.Gly549Ala) c.341G>C (p.Gly114Ala) | |
5 | g.127420098G= | CA1580843033 | MEGF10 | c.1481G= (p.Gly494=) c.1646G= (p.Gly549=) c.341G= (p.Gly114=) | |
5 | g.127420098G>T | CA360729929 | MEGF10 | c.1481G>T (p.Gly494Val) c.1646G>T (p.Gly549Val) c.341G>T (p.Gly114Val) | |
5 | g.127420099C>A | CA446285688 | MEGF10 | c.1482C>A (p.Gly494=) c.1647C>A (p.Gly549=) c.342C>A (p.Gly114=) | gnomAD v4 |
5 | g.127420099C= | CA1580843035 | MEGF10 | c.1482C= (p.Gly494=) c.1647C= (p.Gly549=) c.342C= (p.Gly114=) | |
5 | g.127420099C>G | CA446285691 | MEGF10 | c.1482C>G (p.Gly494=) c.1647C>G (p.Gly549=) c.342C>G (p.Gly114=) | |
5 | g.127420099C>T | CA446285689 | MEGF10 | c.1482C>T (p.Gly494=) c.1647C>T (p.Gly549=) c.342C>T (p.Gly114=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420100T>A | CA360729930 | MEGF10 | c.1483T>A (p.Cys495Ser) c.1648T>A (p.Cys550Ser) c.343T>A (p.Cys115Ser) | |
5 | g.127420100T>C | CA360729931 | MEGF10 | c.1483T>C (p.Cys495Arg) c.1648T>C (p.Cys550Arg) c.343T>C (p.Cys115Arg) | |
5 | g.127420100T>G | CA360729932 | MEGF10 | c.1483T>G (p.Cys495Gly) c.1648T>G (p.Cys550Gly) c.343T>G (p.Cys115Gly) | |
5 | g.127420101G>A | CA360729934 | MEGF10 | c.1484G>A (p.Cys495Tyr) c.1649G>A (p.Cys550Tyr) c.344G>A (p.Cys115Tyr) | |
5 | g.127420101G>C | CA3391591 | MEGF10 | c.1484G>C (p.Cys495Ser) c.1649G>C (p.Cys550Ser) c.344G>C (p.Cys115Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420101G= | CA1580843037 | MEGF10 | c.1484G= (p.Cys495=) c.1649G= (p.Cys550=) c.344G= (p.Cys115=) | |
5 | g.127420101G>T | CA360729933 | MEGF10 | c.1484G>T (p.Cys495Phe) c.1649G>T (p.Cys550Phe) c.344G>T (p.Cys115Phe) | |
5 | g.127420102T>A | CA360729935 | MEGF10 | c.1485T>A (p.Cys495Ter) c.1650T>A (p.Cys550Ter) c.345T>A (p.Cys115Ter) | |
5 | g.127420102T>C | CA446285697 | MEGF10 | c.1485T>C (p.Cys495=) c.1650T>C (p.Cys550=) c.345T>C (p.Cys115=) | |
5 | g.127420102T>G | CA360729936 | MEGF10 | c.1485T>G (p.Cys495Trp) c.1650T>G (p.Cys550Trp) c.345T>G (p.Cys115Trp) | |
5 | g.127420103A>C | CA360729937 | MEGF10 | c.1486A>C (p.Asn496His) c.1651A>C (p.Asn551His) c.346A>C (p.Asn116His) | |
5 | g.127420103A>G | CA360729938 | MEGF10 | c.1486A>G (p.Asn496Asp) c.1651A>G (p.Asn551Asp) c.346A>G (p.Asn116Asp) | |
5 | g.127420103A>T | CA360729939 | MEGF10 | c.1486A>T (p.Asn496Tyr) c.1651A>T (p.Asn551Tyr) c.346A>T (p.Asn116Tyr) | |
5 | g.127420104A= | CA1580843040 | MEGF10 | c.1487A= (p.Asn496=) c.1652A= (p.Asn551=) c.347A= (p.Asn116=) | |
5 | g.127420104A>C | CA360729940 | MEGF10 | c.1487A>C (p.Asn496Thr) c.1652A>C (p.Asn551Thr) c.347A>C (p.Asn116Thr) | |
5 | g.127420104A>G | CA360729941 | MEGF10 | c.1487A>G (p.Asn496Ser) c.1652A>G (p.Asn551Ser) c.347A>G (p.Asn116Ser) | dbSNP gnomAD v4 |
5 | g.127420104A>T | CA360729942 | MEGF10 | c.1487A>T (p.Asn496Ile) c.1652A>T (p.Asn551Ile) c.347A>T (p.Asn116Ile) | |
5 | g.127420105C>A | CA360729943 | MEGF10 | c.1488C>A (p.Asn496Lys) c.1653C>A (p.Asn551Lys) c.348C>A (p.Asn116Lys) | dbSNP gnomAD v4 |
5 | g.127420105C= | CA1580843044 | MEGF10 | c.1488C= (p.Asn496=) c.1653C= (p.Asn551=) c.348C= (p.Asn116=) | |
5 | g.127420105C>G | CA360729944 | MEGF10 | c.1488C>G (p.Asn496Lys) c.1653C>G (p.Asn551Lys) c.348C>G (p.Asn116Lys) | |
5 | g.127420105C>T | CA446285704 | MEGF10 | c.1488C>T (p.Asn496=) c.1653C>T (p.Asn551=) c.348C>T (p.Asn116=) | dbSNP gnomAD v2 |
5 | g.127420106T>A | CA360729945 | MEGF10 | c.1489T>A (p.Leu497Ile) c.1654T>A (p.Leu552Ile) c.349T>A (p.Leu117Ile) | |
5 | g.127420106T>C | CA446285708 | MEGF10 | c.1489T>C (p.Leu497=) c.1654T>C (p.Leu552=) c.349T>C (p.Leu117=) | gnomAD v4 |
5 | g.127420106T>G | CA360729946 | MEGF10 | c.1489T>G (p.Leu497Val) c.1654T>G (p.Leu552Val) c.349T>G (p.Leu117Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420106T= | CA1580843048 | MEGF10 | c.1489T= (p.Leu497=) c.1654T= (p.Leu552=) c.349T= (p.Leu117=) | |
5 | g.127420107T>A | CA360729949 | MEGF10 | c.1490T>A (p.Leu497Ter) c.1655T>A (p.Leu552Ter) c.350T>A (p.Leu117Ter) | |
5 | g.127420107T>C | CA360729948 | MEGF10 | c.1490T>C (p.Leu497Ser) c.1655T>C (p.Leu552Ser) c.350T>C (p.Leu117Ser) | |
5 | g.127420107T>G | CA360729947 | MEGF10 | c.1490T>G (p.Leu497Ter) c.1655T>G (p.Leu552Ter) c.350T>G (p.Leu117Ter) | |
5 | g.127420108A>C | CA360729950 | MEGF10 | c.1491A>C (p.Leu497Phe) c.1656A>C (p.Leu552Phe) c.351A>C (p.Leu117Phe) | |
5 | g.127420108A>G | CA446285714 | MEGF10 | c.1491A>G (p.Leu497=) c.1656A>G (p.Leu552=) c.351A>G (p.Leu117=) | ClinVar gnomAD v4 |
5 | g.127420108A>T | CA360729951 | MEGF10 | c.1491A>T (p.Leu497Phe) c.1656A>T (p.Leu552Phe) c.351A>T (p.Leu117Phe) | |
5 | g.127420109A>C | CA360729952 | MEGF10 | c.1492A>C (p.Thr498Pro) c.1657A>C (p.Thr553Pro) c.352A>C (p.Thr118Pro) | |
5 | g.127420109A>G | CA360729953 | MEGF10 | c.1492A>G (p.Thr498Ala) c.1657A>G (p.Thr553Ala) c.352A>G (p.Thr118Ala) | gnomAD v4 |
5 | g.127420109A>T | CA360729954 | MEGF10 | c.1492A>T (p.Thr498Ser) c.1657A>T (p.Thr553Ser) c.352A>T (p.Thr118Ser) | |
5 | g.127420110C>A | CA360729955 | MEGF10 | c.1493C>A (p.Thr498Lys) c.1658C>A (p.Thr553Lys) c.353C>A (p.Thr118Lys) | |
5 | g.127420110C= | CA1580843050 | MEGF10 | c.1493C= (p.Thr498=) c.1658C= (p.Thr553=) c.353C= (p.Thr118=) | |
5 | g.127420110C>G | CA360729956 | MEGF10 | c.1493C>G (p.Thr498Arg) c.1658C>G (p.Thr553Arg) c.353C>G (p.Thr118Arg) | |
5 | g.127420110C>T | CA360729957 | MEGF10 | c.1493C>T (p.Thr498Ile) c.1658C>T (p.Thr553Ile) c.353C>T (p.Thr118Ile) | dbSNP |
5 | g.127420111A= | CA1580843053 | MEGF10 | c.1494A= (p.Thr498=) c.1659A= (p.Thr553=) c.354A= (p.Thr118=) | |
5 | g.127420111A>C | CA446285724 | MEGF10 | c.1494A>C (p.Thr498=) c.1659A>C (p.Thr553=) c.354A>C (p.Thr118=) | |
5 | g.127420111A>G | CA446285726 | MEGF10 | c.1494A>G (p.Thr498=) c.1659A>G (p.Thr553=) c.354A>G (p.Thr118=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420111A>T | CA446285728 | MEGF10 | c.1494A>T (p.Thr498=) c.1659A>T (p.Thr553=) c.354A>T (p.Thr118=) | |
5 | g.127420112T>A | CA360729958 | MEGF10 | c.1495T>A (p.Cys499Ser) c.1660T>A (p.Cys554Ser) c.355T>A (p.Cys119Ser) | |
5 | g.127420112T>C | CA360729959 | MEGF10 | c.1495T>C (p.Cys499Arg) c.1660T>C (p.Cys554Arg) c.355T>C (p.Cys119Arg) | |
5 | g.127420112T>G | CA360729960 | MEGF10 | c.1495T>G (p.Cys499Gly) c.1660T>G (p.Cys554Gly) c.355T>G (p.Cys119Gly) | gnomAD v4 |
5 | g.127420113G>A | CA360729961 | MEGF10 | c.1496G>A (p.Cys499Tyr) c.1661G>A (p.Cys554Tyr) c.356G>A (p.Cys119Tyr) | |
5 | g.127420113G>C | CA360729962 | MEGF10 | c.1496G>C (p.Cys499Ser) c.1661G>C (p.Cys554Ser) c.356G>C (p.Cys119Ser) | |
5 | g.127420113G>T | CA360729963 | MEGF10 | c.1496G>T (p.Cys499Phe) c.1661G>T (p.Cys554Phe) c.356G>T (p.Cys119Phe) | |
5 | g.127420114C>A | CA360729964 | MEGF10 | c.1497C>A (p.Cys499Ter) c.1662C>A (p.Cys554Ter) c.357C>A (p.Cys119Ter) | |
5 | g.127420114C>G | CA360729965 | MEGF10 | c.1497C>G (p.Cys499Trp) c.1662C>G (p.Cys554Trp) c.357C>G (p.Cys119Trp) | |
5 | g.127420114C>T | CA446285737 | MEGF10 | c.1497C>T (p.Cys499=) c.1662C>T (p.Cys554=) c.357C>T (p.Cys119=) | gnomAD v4 |
5 | g.127420115C>A | CA360729966 | MEGF10 | c.1498C>A (p.Gln500Lys) c.1663C>A (p.Gln555Lys) c.358C>A (p.Gln120Lys) | |
5 | g.127420115C>G | CA360729967 | MEGF10 | c.1498C>G (p.Gln500Glu) c.1663C>G (p.Gln555Glu) c.358C>G (p.Gln120Glu) | |
5 | g.127420115C>T | CA360729968 | MEGF10 | c.1498C>T (p.Gln500Ter) c.1663C>T (p.Gln555Ter) c.358C>T (p.Gln120Ter) | gnomAD v4 |
5 | g.127420115_127420116insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA | CA2768314521 | MEGF10 | c.1498_1499insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln500ProfsTer5) c.1663_1664insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln555ProfsTer5) c.358_359insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln120ProfsTer5) | |
5 | g.127420116A>C | CA360729969 | MEGF10 | c.1499A>C (p.Gln500Pro) c.1664A>C (p.Gln555Pro) c.359A>C (p.Gln120Pro) | |
5 | g.127420116A>G | CA360729970 | MEGF10 | c.1499A>G (p.Gln500Arg) c.1664A>G (p.Gln555Arg) c.359A>G (p.Gln120Arg) | gnomAD v4 |
5 | g.127420116A>T | CA360729971 | MEGF10 | c.1499A>T (p.Gln500Leu) c.1664A>T (p.Gln555Leu) c.359A>T (p.Gln120Leu) | |
5 | g.127420117G>A | CA3391592 | MEGF10 | c.1500G>A (p.Gln500=) c.1665G>A (p.Gln555=) c.360G>A (p.Gln120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420117G>C | CA360729972 | MEGF10 | c.1500G>C (p.Gln500His) c.1665G>C (p.Gln555His) c.360G>C (p.Gln120His) | |
5 | g.127420117G= | CA1580843058 | MEGF10 | c.1500G= (p.Gln500=) c.1665G= (p.Gln555=) c.360G= (p.Gln120=) | |
5 | g.127420117G>T | CA360729973 | MEGF10 | c.1500G>T (p.Gln500His) c.1665G>T (p.Gln555His) c.360G>T (p.Gln120His) | |
5 | g.127420118T>A | CA360729974 | MEGF10 | c.1501T>A (p.Cys501Ser) c.1666T>A (p.Cys556Ser) c.361T>A (p.Cys121Ser) | |
5 | g.127420118T>C | CA360729975 | MEGF10 | c.1501T>C (p.Cys501Arg) c.1666T>C (p.Cys556Arg) c.361T>C (p.Cys121Arg) | |
5 | g.127420118T>G | CA360729976 | MEGF10 | c.1501T>G (p.Cys501Gly) c.1666T>G (p.Cys556Gly) c.361T>G (p.Cys121Gly) | |
5 | g.127420119G>A | CA360729978 | MEGF10 | c.1502G>A (p.Cys501Tyr) c.1667G>A (p.Cys556Tyr) c.362G>A (p.Cys121Tyr) | |
5 | g.127420119G>C | CA360729979 | MEGF10 | c.1502G>C (p.Cys501Ser) c.1667G>C (p.Cys556Ser) c.362G>C (p.Cys121Ser) | |
5 | g.127420119G>T | CA360729977 | MEGF10 | c.1502G>T (p.Cys501Phe) c.1667G>T (p.Cys556Phe) c.362G>T (p.Cys121Phe) | |
5 | g.127420120C>A | CA360729981 | MEGF10 | c.1503C>A (p.Cys501Ter) c.1668C>A (p.Cys556Ter) c.363C>A (p.Cys121Ter) | |
5 | g.127420120C>G | CA360729980 | MEGF10 | c.1503C>G (p.Cys501Trp) c.1668C>G (p.Cys556Trp) c.363C>G (p.Cys121Trp) | |
5 | g.127420120C>T | CA446285755 | MEGF10 | c.1503C>T (p.Cys501=) c.1668C>T (p.Cys556=) c.363C>T (p.Cys121=) | |
5 | g.127420121C>A | CA360729982 | MEGF10 | c.1504C>A (p.Leu502Ile) c.1669C>A (p.Leu557Ile) c.364C>A (p.Leu122Ile) | |
5 | g.127420121C= | CA1580843062 | MEGF10 | c.1504C= (p.Leu502=) c.1669C= (p.Leu557=) c.364C= (p.Leu122=) | |
5 | g.127420121C>G | CA3391593 | MEGF10 | c.1504C>G (p.Leu502Val) c.1669C>G (p.Leu557Val) c.364C>G (p.Leu122Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420121C>T | CA360729983 | MEGF10 | c.1504C>T (p.Leu502Phe) c.1669C>T (p.Leu557Phe) c.364C>T (p.Leu122Phe) | gnomAD v4 |
5 | g.127420122T>A | CA360729984 | MEGF10 | c.1505T>A (p.Leu502His) c.1670T>A (p.Leu557His) c.365T>A (p.Leu122His) | |
5 | g.127420122T>C | CA360729985 | MEGF10 | c.1505T>C (p.Leu502Pro) c.1670T>C (p.Leu557Pro) c.365T>C (p.Leu122Pro) | |
5 | g.127420122T>G | CA360729986 | MEGF10 | c.1505T>G (p.Leu502Arg) c.1670T>G (p.Leu557Arg) c.365T>G (p.Leu122Arg) | |
5 | g.127420123C>A | CA446285762 | MEGF10 | c.1506C>A (p.Leu502=) c.1671C>A (p.Leu557=) c.366C>A (p.Leu122=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420123C= | CA1580843064 | MEGF10 | c.1506C= (p.Leu502=) c.1671C= (p.Leu557=) c.366C= (p.Leu122=) | |
5 | g.127420123C>G | CA446285764 | MEGF10 | c.1506C>G (p.Leu502=) c.1671C>G (p.Leu557=) c.366C>G (p.Leu122=) | |
5 | g.127420123C>T | CA446285766 | MEGF10 | c.1506C>T (p.Leu502=) c.1671C>T (p.Leu557=) c.366C>T (p.Leu122=) | |
5 | g.127420124A= | CA1580843067 | MEGF10 | c.1507A= (p.Asn503=) c.1672A= (p.Asn558=) c.367A= (p.Asn123=) | |
5 | g.127420124A>C | CA360729989 | MEGF10 | c.1507A>C (p.Asn503His) c.1672A>C (p.Asn558His) c.367A>C (p.Asn123His) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420124A>G | CA360729987 | MEGF10 | c.1507A>G (p.Asn503Asp) c.1672A>G (p.Asn558Asp) c.367A>G (p.Asn123Asp) | |
5 | g.127420124A>T | CA360729988 | MEGF10 | c.1507A>T (p.Asn503Tyr) c.1672A>T (p.Asn558Tyr) c.367A>T (p.Asn123Tyr) |